Aug 2024 DOI 10.14302/issn.2372-6601.jhor-24-5108
Zakaria Baniamer AnsamCorresponding author
Hereditary thrombotic diseases, or inherited bleeding disorders, are a group of genetic conditions that disrupt normal blood coagulation. These diseases result from mutations in genes encoding blood coagulation factors or other regulatory proteins, impairing the body's ability to regulate bleeding and clotting. The most common inherited clotting disorders are hemophilia A and B, which are associated with deficiencies in clotting factors VIII and IX, respectively. Von Willebrand disease (VWD) is another prevalent disorder characterized by a deficiency or dysfunction of the Von Willebrand factor, a protein essential for coagulation. Additionally, the Factor V Leiden mutation is linked to an increased risk of blood clots. The prevalence of inherited coagulation disorders varies significantly by region and subpopulation. It is estimated that 5,000 to 10,000 male newborns are born with hemophilia A or B each year. Von Willebrand disease is much more common, affecting about 1% of the global population. The Factor V Leiden mutation is found in significant percentages of certain populations, with 3–8% of Caucasians being carriers. While antithrombin deficiency is more common in some areas, the incidence of other inherited clotting disorders, such as Factor XI, protein C and S deficiencies, and VWD, varies widely worldwide. This study discusses the incidence of inherited clotting disorders and their impact on affected individuals and their families. It also covers new advancements in disease management, alternative therapy approaches, and contemporary diagnostic techniques, aiming to improve diagnoses, treatments, and outcomes for patients with hereditary clotting disorders.
Aug 2025 DOI 10.14302/issn.3070-1937.ijbt-25-5408
Taher Hojjati MohammadCorresponding author
Background and Objectives Platelets are small, anucleate blood cells produced in the bone marrow, primarily involved in blood coagulation. Platelet concentrate is a vital blood product with extensive applications. However, its short lifespan and limited donor availability pose global challenges. This study aimed to follow the trend of platelets 5 during days of storage. Material and Methods We studied on 40 platelet bags and analyzed glucose levels, lactate dehydrogenase (LDH), bacterial culture, and apoptosis using flow cytometry with Annexin V-PI over three consecutive days (first, third, and fifth) post-blood collection. Data were analyzed using SPSS. Results No significant correlations were found between age, blood group, or gender and the variables studied. No bacterial growth was detected. Glucose levels decreased significantly from day 1 (382 mg/dl) to day 5 (298 mg/dl). The average platelet apoptosis increased significantly from 3.65% on day 1 to 9.06% on day 5. Significant correlations were observed between glucose levels and apoptosis on days 3 (p<0.05) and 5 (p<0.01). No correlation found between LDH and apoptosis or necrosis, although a significant relationship between necrosis and apoptosis was noted on day 5 (p=0.003). Conclusion These findings suggest that while demographic factors do not influence the studied variables, the significant decrease in glucose levels correlates with increased platelet apoptosis over time, highlighting potential metabolic interactions that warrant further investigation. Highlights 1. The study revealed subtle variations in metabolic markers related to donor demographics, particularly gender and age. Understanding these differences can inform targeted donor selection strategies to optimize platelet quality. 2. A significant negative correlation was found between glucose levels and apoptosis rates, indicating that as glucose decreases, platelet viability declines. This relationship highlights the need for careful monitoring of glucose levels during storage to maintain platelet function. 3. Fluctuations in lactate dehydrogenase (LDH) levels were correlated with increasing rates of apoptosis, suggesting that LDH could serve as a valuable biomarker for assessing platelet quality throughout the storage period. This finding could lead to improved storage protocols and enhanced transfusion safety.